Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Friedreich's ataxia; Hereditary spinal sclerosis; Hereditary spinal ataxia;
Congenital and Genetic Diseases; Eye diseases; Heart Diseases;
Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich ataxia, such as
The rate of progression varies from person to person. Generally, within 10 to 20 years after the first symptoms appear, people with Friedreich ataxia need to consistently use a wheelchair. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|100% of people have these symptoms|
Inability to coordinate movements when walking
|80%-99% of people have these symptoms|
Difficulty articulating speech
Abnormality of balance
Abnormality of equilibrium
[ more ]
|Hand muscle atrophy||
Hand muscle degeneration
|30%-79% of people have these symptoms|
|Abnormal saccadic eye movements||0000570|
|Areflexia of lower limbs||0002522|
Disease of the heart muscle
|Cervical spinal cord atrophy||0010873|
Lack of coordination of movement
|Impaired visually enhanced vestibulo-ocular reflex||0030183|
Involuntary, rapid, rhythmic eye movements
|Poor fine motor coordination||0007010|
|Sensory axonal neuropathy||0003390|
|Urinary bladder sphincter dysfunction||0002839|
|5%-29% of people have these symptoms|
|Decreased motor nerve conduction velocity||0003431|
[ more ]
[ more ]
|Inability to walk||0002540|
|Reduced visual acuity||
Decreased clarity of vision
Involuntary muscle stiffness, contraction, or spasm
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of visual evoked potentials||0000649|
|Congestive heart failure||
[ more ]
|Decreased amplitude of sensory action potentials||0007078|
|Decreased pyruvate carboxylase activity||0003209|
|Decreased sensory nerve conduction velocity||0003448|
Enlarged and thickened heart muscle
|Impaired vibratory sensation||
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ]
Signs and symptoms begin before 15 years of age
Damage to nerves that sense feeling
|Visual field defect||
Partial loss of field of vision
The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing is a booklet providing information about spinocerebellar
ataxiaand is available as a PDF document on the University of Washington Medical Center Web site. Click on the title above to view this resource.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
- Friedreich's Ataxia Research Alliance (FARA) has clinical care guidelines that document the diagnosis, treatment and management of Friedreich
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Charcot-Marie-Tooth type 1 and 2, ataxia with vitamin E deficiency, ataxia-oculomotor apraxia type 1 and 2 and other early-onset ataxias.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Friedreich's Ataxia Research Alliance (FARA) has page called "What is FA?" that provides information on symptoms, cause, diagnosis, and treatment of Friedreich ataxia.
- Genetics Home Reference (GHR) contains information on Friedreich ataxia. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Friedreich ataxia. Click on the link to view a sample search on this topic.
- Friedreich ataxia. Genetics Home Reference. May 2010; https://ghr.nlm.nih.gov/condition/friedreich-ataxia. Accessed 5/22/2015.
- Friedreich's Ataxia Fact Sheet. The National Institute of Neurological Disorders and Stroke (NINDS). April 16, 2014; https://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm. Accessed 5/22/2015.